Diagnostic value of mNGS in patients with suspected tumor: An observational study

Some patients suspected of infection may have potential causes, such as tumors, but conventional examination methods are negative. Copy number variation (CNV) analysis based on metagenomics next generation sequencing (mNGS) can simultaneously detect pathogenic microorganisms and tumors signals. Patients with suspected infection in our department were retrospectively analyzed, and mNGS and chromosomal CNV analysis were performed simultaneously. A total of 9 patients with positive tumor signal were included in the study. This study was divided into 2 parts: in the first part, patients suspected of infection were finally diagnosed with a tumor by CNV assisted analysis; in the second part, the accuracy of this analysis was verified again by patients with a history of cancer. Three of five patients without a history of tumor were diagnosed with hematological malignancy. All patients with active tumor had obvious abnormal CNV signals. The chromosomal abnormalities mainly included multiple chromosome duplication and deletion, arm level duplication and deletion, and chromosome aneuploidy. mNGS-based CNV analysis had clinical value for patients with underlying tumor.